Canonical Allele Identifier: CA2736763910
Gene: GDF5 HGNC NCBI

Linked Data

dbSNP Id: rs2146583918

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.35438122_35438123del , CM000682.2:g.35438122_35438123del GRCh38
NC_000020.10:g.34025902_34025903del , CM000682.1:g.34025902_34025903del GRCh37
NC_000020.9:g.33489316_33489317del NCBI36
NG_008076.2:g.5098_5099del
NG_008076.3:g.21625_21626del

Transcript Alleles

HGVS Amino-acid change
ENST00000374369.8:c.-194_-193del MANE Select ENSP00000363489.3:n.-194_-193del
ENST00000374369.7:c.-194_-193del ENSP00000363489.3:n.-194_-193del
ENST00000374372.1:c.-194_-193del ENSP00000363492.1:n.-194_-193del
NM_000557.4:c.-194_-193del NP_000548.2:n.-194_-193del
XM_011529075.1:c.-194_-193del XP_011527377.1:n.-194_-193del
XM_011529076.1:c.-194_-193del XP_011527378.1:n.-194_-193del
NM_001319138.1:c.-194_-193del NP_001306067.1:n.-194_-193del
NM_000557.5:c.-194_-193del MANE Select NP_000548.2:n.-194_-193del
NM_001319138.2:c.-194_-193del NP_001306067.1:n.-194_-193del